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PMID: 23887607 Published · ppublish English Journal Article Review

Technical and implementation issues in using next-generation sequencing of cancers in clinical practice.

British journal of cancer ·Vol. 109 ·No. 4 ·2013-08-20 ·Pages 827-35

Ulahannan D, Kovac MB, Mulholland PJ, Cazier JB, Tomlinson I

Abstract

Next-generation sequencing (NGS) of cancer genomes promises to revolutionise oncology, with the ability to design and use targeted drugs, to predict outcome and response, and to classify tumours. It is continually becoming cheaper, faster and more reliable, with the capability to identify rare yet clinically important somatic mutations. Technical challenges include sequencing samples of low quality and/or quantity, reliable identification of structural and copy number variation, and assessment of intratumour heterogeneity. Once these problems are overcome, the use of the data to guide clinical decision making is not straightforward, and there is a risk of premature use of molecular changes to guide patient management in the absence of supporting evidence. Paradoxically, NGS may simply move the bottleneck of personalised medicine from data acquisition to the identification of reliable biomarkers. Standardised cancer NGS data collection on an international scale would be a significant step towards optimising patient care.

MeSH Terms
Genome Humans Molecular Diagnostic Techniques Mutation Neoplasms/diagnosis,genetics Precision Medicine Sequence Analysis, DNA
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Ulahannan D
Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK. [email protected]
Kovac M B
Mulholland P J
Cazier J-B
Tomlinson I
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Article Info
Journal
British journal of cancer
Abbr.
Br J Cancer
ISSN
1532-1827
Published
2013-08-20
Epub
2013-00-25
Pages
827-35
Language
English
Region
England
NLM ID
0370635
PMCID
PMC3749581
Subset
IM
Grants
Wellcome Trust · 090532 · United Kingdom
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